Variant report

Variant	rs74097060
Chromosome Location	chr1:86104296-86104297
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55863151	1.00[AMR][1000 genomes]
rs56276114	0.83[AMR][1000 genomes]
rs56884931	1.00[AMR][1000 genomes]
rs57768694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60184734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61168883	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61328391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944688	1.00[AMR][1000 genomes]
rs72944702	1.00[AMR][1000 genomes]
rs74097059	1.00[AMR][1000 genomes]
rs74097061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097066	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097075	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097079	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097082	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097085	1.00[AMR][1000 genomes]
rs7530774	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538740	0.85[AMR][1000 genomes]
rs7541996	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86091800-86107600	Weak transcription	Colonic Mucosa	Colon
2	chr1:86094000-86118600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:86095200-86104400	Weak transcription	Right Ventricle	heart
4	chr1:86095400-86107600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:86095400-86119000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:86095400-86134800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:86095600-86117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:86096200-86115600	Weak transcription	NH-A	brain
9	chr1:86096400-86104800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:86101000-86107600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:86101200-86106600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr1:86102000-86105200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr1:86102200-86104800	Weak transcription	Fetal Brain Male	brain
14	chr1:86102400-86105200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:86102400-86105200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr1:86102400-86105400	ZNF genes & repeats	Dnd41	blood
17	chr1:86102600-86104400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr1:86102600-86104600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:86102600-86104600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
20	chr1:86102800-86105200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:86102800-86118200	Weak transcription	K562	blood
22	chr1:86103000-86104400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr1:86103000-86104400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr1:86103000-86104400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
25	chr1:86103000-86104600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr1:86103000-86104600	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr1:86103000-86104600	ZNF genes & repeats	NHEK	skin
28	chr1:86103000-86105200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:86103000-86105200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr1:86103000-86105200	ZNF genes & repeats	Liver	Liver
31	chr1:86103000-86105200	ZNF genes & repeats	Osteobl	bone
32	chr1:86103200-86104400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
33	chr1:86103200-86104400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr1:86103200-86104400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr1:86103400-86104400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:86103400-86104600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr1:86103400-86104600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr1:86103400-86105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr1:86103400-86116000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:86103400-86173000	Weak transcription	Pancreas	Pancrea
41	chr1:86103600-86104400	Weak transcription	Aorta	Aorta
42	chr1:86103600-86104800	Weak transcription	A549	lung
43	chr1:86103600-86105200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:86103600-86105800	Weak transcription	Lung	lung
45	chr1:86103600-86107800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:86103600-86113600	Weak transcription	HSMM	muscle
47	chr1:86103600-86114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:86103600-86114000	Weak transcription	Fetal Stomach	stomach
49	chr1:86103600-86115000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:86103600-86116400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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